MHRA launches consultation on new UK rare disease therapies framework to accelerate patient access

The Medicines and Healthcare products Regulatory Agency (MHRA) has launched a public consultation on a proposed Rare Disease Therapies Framework that aims to make the UK a global leader in rare disease therapy development.

The consultation, which runs until 30 July, invites pharmaceutical and life sciences organizations across the UK and internationally to help shape a new regulatory model that will support earlier patient access to potentially life-saving rare disease treatments.

A new regulatory framework for rare disease therapies

The draft Rare Disease Therapies Framework sets out a technology-agnostic regulatory approach designed to overcome the scientific, evidentiary and commercial barriers that currently prevent many rare disease therapies from reaching patients under conventional development models.

The framework is intended for therapies targeting rare diseases with a prevalence of typically one in approximately 50,000 people or fewer in the UK, where there are clear and measurable barriers to conventional development. It is designed to support a wide range of rare disease therapies, including advanced therapy medicinal products (ATMPs), individualised medicines, gene-based therapies, digital-enabled medicinal products, innovative manufacturing platforms and repurposed medicines.

Why industry input is critical

The MHRA has made clear that the detail of the Rare Disease Therapies Framework must be shaped by those who will use it in practice. The consultation provides a direct opportunity for:

• Pharmaceutical companies
• Biotechnology developers
• Contract research organizations (CROs)
• Academics and clinical researchers
• Clinicians and healthcare professionals

to influence the final guidance.

Stakeholders are invited to comment on key elements of the framework, including:

• Eligibility criteria for an Investigational Marketing Authorisation (IMA) designation
• The approach to real-world evidence generation
• Scientific advice processes and early engagement with regulators
• How the framework will interface with existing routes such as orphan designation and the Innovative Licensing and Access Pathway (ILAP)

Industry input is considered essential to enable earlier access to rare disease therapies, particularly for patients with serious and life-limiting conditions who currently have few or no treatment options.

Cross-sector collaboration through the Rare Disease Consortium

The proposed framework has been developed with input from the Rare Disease Consortium, a cross-sector group that brings together key organizations across the UK health and research ecosystem. Members include:

• Medicines and Healthcare products Regulatory Agency (MHRA)
• Health Research Authority (HRA)
• National Institute for Health and Care Excellence (NICE)
• Department of Health and Social Care (DHSC)
• NHS England
• Patient advocacy organizations
• Academic institutions
• Industry partners from the pharmaceutical and biotechnology sectors

The public consultation now opens this process to wider input from across the rare disease community, including patient groups, researchers and commercial developers.

A new model for rare disease development

Traditional rare disease development programmes typically take 10–12 years to reach marketing authorization, driven by linear phase progression and limited opportunities for early regulatory involvement. The proposed Rare Disease Therapies Framework is designed to compress these timelines, particularly in early development phases and during regulatory decision-making.

At the centre of the proposal is a new Investigational Marketing Authorisation (IMA), a single authorization that combines clinical trial approval with a progressive route to marketing authorization. Instead of requiring sponsors to move from clinical trial approval to marketing authorization as separate regulatory steps, the IMA would:

• Provide a coherent lifecycle for rare disease therapies
• Support rolling data submissions and modular assessments
• Enable earlier patient access where there is limited but compelling evidence
• Require structured post-authorization evidence generation for safety, quality and efficacy

This lifecycle approach is intended to support more agile and responsive development pathways for rare disease therapies, while maintaining robust regulatory oversight.

Support for innovative trial designs and advanced methodologies

The draft guidance explicitly supports adaptive and innovative clinical trial designs that are particularly relevant for small patient populations in rare diseases. These include:

• Basket trials
• Umbrella trials
• Hybrid designs incorporating real-world evidence

The framework recognizes that surrogate or patient-relevant endpoints may be appropriate where conventional endpoints are not feasible in rare disease settings.

The MHRA also sets out its openness to the use of advanced methodologies, including:

• Computational modeling
• Digital twins
• Non-animal methods

where these approaches are scientifically justified and can support robust decision-making on benefit–risk, safety and efficacy.

Opportunities for large and small developers

For larger pharmaceutical companies, the Rare Disease Therapies Framework creates new opportunities to diversify into very rare indications, supported by:

• A more predictable and transparent regulatory environment
• More iterative investment strategies aligned with staged evidence generation
• Earlier and more structured engagement with UK regulators

For smaller developers, biotechnology start-ups and academic groups, the framework is designed to provide:

• Earlier regulatory certainty
• Structured scientific advice from the outset of development
• A clearer route from early clinical research to marketing authorization

This is intended to lower barriers to entry for innovators working in very rare conditions and to support the translation of cutting-edge science into therapies for patients.

Strengthening the UK’s global position in rare disease innovation

By aligning regulatory innovation with the capabilities of the National Health Service and the UK research ecosystem, the Framework aims to:

• Position the UK as a destination of choice for rare disease therapy development and clinical trials
• Attract global investment in rare disease research and development
• Safeguard patients and maintain public confidence in regulatory decision-making

The technology-agnostic nature of the Framework means it can be applied across a broad range of therapeutic modalities, from advanced therapy medicinal products and gene-based therapies to digital-enabled medicinal products, innovative manufacturing platforms and repurposed medicines.

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